Hypermethioninaemia and 3-hydroxyisobutyric aciduria in an apparently healthy baby.
An apparently healthy baby with persistent hypermethioninaemia excretes increased amounts of 3-hydroxyisobutyrate, 3-hydroxypropionate, beta-aminoisobutyrate and beta-alanine. A defect in the oxidation of methylmalonic and malonic semialdehydes is proposed but the cause of the hypermethioninaemia is obscure.
D000409:Alanine / Q000652:urine; D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism*; D000621:Aminoisobutyric Acids / Q000652:urine; D006801:Humans; D006885:Hydroxybutyrates / Q000652:urine*; D007223:Infant; D007536:Isomerism; D007773:Lactates / Q000652:urine; D019344:Lactic Acid / Q000031:analogs & derivatives*; D008715:Methionine / Q000097:blood*; D013941:Thymine; D014633:Valine
D000621:Aminoisobutyric Acids; D006885:Hydroxybutyrates; D007773:Lactates; D019344:Lactic Acid; D008715:Methionine; C031601:hydracrylic acid; D014633:Valine; C020757:3-hydroxyisobutyric acid; D000409:Alanine; D013941:Thymine